Article
Sudden cardiac death in hypertrophic cardiomyopathy. Variability in phenotypic expression of beta-myosin heavy chain mutations.
European heart journal - 1 Mar 1995
Marian A J, Mares A, Kelly D P, Yu Q T, Abchee A B, Hill R, Roberts R
Abstract excerpt
BACKGROUND: Recent identification of mutations in the beta-myosin heavy chain gene (MYH7), a major responsible gene for HCM, has provided the opportunity to characterize genotype-phenotype correlation in HCM families. In this study we analysed the phenotypic expression of two beta-myosin heavy chain (beta MHC) mutations in three unrelated HCM families. METHODS: Living individuals from three unrelated HCM families...
Topics
- Adolescent
- Adult
- Aged
- Cardiomyopathy, Hypertrophic
- Child
- Child, Preschool
- DNA Mutational Analysis
- Death, Sudden, Cardiac
- Exons
- Female
- Genetic Carrier Screening